Canonical Allele Identifier: CA352790066

Gene: AMT

Linked Data

• ClinVar Variation Id: 462900
• ClinVar RCV Id: RCV000533799
• dbSNP Id: rs1553638463
• MyVariant Identifiers: chr3:g.49456704C>G (hg19) ; chr3:g.49419271C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49419271C>G , CM000665.2:g.49419271C>G	GRCh38
NC_000003.11:g.49456704C>G , CM000665.1:g.49456704C>G	GRCh37
NC_000003.10:g.49431708C>G	NCBI36
NG_015986.1:g.8408G>C , LRG_537:g.8408G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.685G>C MANE Select	ENSP00000273588.3:p.Asp229His
ENST00000395338.7:c.685G>C	ENSP00000378747.2:p.Asp229His
ENST00000399379.7:c.417G>C	ENSP00000399943.2:n.417G>C
ENST00000427987.6:c.541G>C	ENSP00000403821.2:p.Asp181His
ENST00000430521.2:c.*487G>C	ENSP00000388068.2:n.*487G>C
ENST00000465925.6:n.2579G>C
ENST00000473163.2:n.3193G>C
ENST00000476127.6:n.914G>C
ENST00000476226.6:n.1106G>C
ENST00000476828.2:n.1384G>C
ENST00000478594.6:n.1112G>C
ENST00000480957.6:n.2578G>C
ENST00000487589.6:n.598G>C
ENST00000491800.3:n.3202G>C
ENST00000493046.6:n.2749+439G>C
ENST00000538581.6:c.541G>C	ENSP00000443200.2:p.Asp181His
ENST00000635772.1:n.1415G>C
ENST00000635798.1:n.380G>C
ENST00000635808.1:c.604G>C	ENSP00000489620.1:p.Asp202His
ENST00000635889.1:n.1116G>C
ENST00000635907.1:n.580G>C
ENST00000635936.1:n.965-120G>C
ENST00000636023.1:c.551-120G>C	ENSP00000489969.1:n.551-120G>C
ENST00000636070.1:c.*465G>C	ENSP00000490160.1:n.*465G>C
ENST00000636148.1:n.2630G>C
ENST00000636166.1:c.922G>C	ENSP00000490106.1:p.Asp308His
ENST00000636199.1:c.259-120G>C	ENSP00000490871.1:n.259-120G>C
ENST00000636204.1:n.1967G>C
ENST00000636461.1:c.4219G>C
ENST00000636522.1:c.517G>C	ENSP00000489758.1:p.Asp173His
ENST00000636587.1:n.783-120G>C
ENST00000636597.1:c.550+439G>C	ENSP00000490251.1:n.550+439G>C
ENST00000636725.1:n.1401G>C
ENST00000636803.1:n.1027G>C
ENST00000636865.1:c.529G>C	ENSP00000490601.1:p.Asp177His
ENST00000636871.1:n.1050G>C
ENST00000636978.1:n.689G>C
ENST00000636991.1:n.1130G>C
ENST00000637059.1:c.149-120G>C	ENSP00000490153.1:n.149-120G>C
ENST00000637088.1:n.5497G>C
ENST00000637114.1:n.677G>C
ENST00000637268.1:n.1416G>C
ENST00000637291.1:n.1419G>C
ENST00000637442.1:n.2906G>C
ENST00000637455.1:c.496G>C	ENSP00000489628.1:p.Asp166His
ENST00000637457.1:n.1438G>C
ENST00000637682.1:c.685G>C	ENSP00000489856.1:p.Asp229His
ENST00000637684.1:n.787G>C
ENST00000637821.1:c.*887G>C	ENSP00000490482.1:n.*887G>C
ENST00000637914.1:n.2579G>C
ENST00000637982.1:n.1099G>C
ENST00000637994.1:n.1117G>C
ENST00000638014.1:c.3466G>C
ENST00000638063.1:c.604G>C	ENSP00000489760.1:p.Asp202His
ENST00000638079.1:c.*1197G>C	ENSP00000490120.1:n.*1197G>C
ENST00000638092.1:n.1097G>C
ENST00000638115.1:c.*2446G>C	ENSP00000490296.1:n.*2446G>C
ENST00000273588.7:c.685G>C	ENSP00000273588.3:p.Asp229His
ENST00000395338.6:c.685G>C	ENSP00000378747.2:p.Asp229His
ENST00000399379.6:c.*465G>C	ENSP00000399943.1:n.*465G>C
ENST00000427987.5:c.677G>C
ENST00000430521.1:c.517G>C	ENSP00000388068.1:p.Asp173His
ENST00000458307.6:c.553G>C	ENSP00000415619.2:p.Asp185His
ENST00000465925.5:n.1875G>C
ENST00000476127.5:n.444G>C
ENST00000476226.5:n.750G>C
ENST00000491800.2:n.135G>C
ENST00000495436.5:n.643G>C
ENST00000538581.5:c.517G>C	ENSP00000443200.1:p.Asp173His
NM_000481.3:c.685G>C , LRG_537t1:c.685G>C	NP_000472.2:p.Asp229His
NM_001164710.1:c.553G>C	NP_001158182.1:p.Asp185His
NM_001164711.1:c.517G>C	NP_001158183.1:p.Asp173His
NM_001164712.1:c.685G>C	NP_001158184.1:p.Asp229His
NR_028435.1:n.899G>C
NM_000481.4:c.685G>C MANE Select	NP_000472.2:p.Asp229His
NM_001164710.2:c.553G>C	NP_001158182.1:p.Asp185His
NM_001164711.2:c.517G>C	NP_001158183.1:p.Asp173His
NM_001164712.2:c.685G>C	NP_001158184.1:p.Asp229His
NR_028435.2:n.694G>C